New UH Rainbow program provides comprehensive care for children with rare but potentially devastating seizure disorder
Innovations in Pediatrics - Fall 2017
JUN PARK, MD
Pediatric Epilepsy Specialist, UH Rainbow Babies & Children’s Hospital; Associate Professor of Pediatrics, Case Western Reserve University School of Medicine
As childhood seizure disorders go, epileptic spasms often fly under the radar, delaying timely diagnosis. The disorder is relatively rare, with only about 2,500 American children receiving a diagnosis each year. Experts say it’s not unusual for a pediatrician to see just one or two cases during an entire career. To further complicate things, epileptic spasms can sometimes be difficult to detect. Bilateral flexor and extensor spasms of the limbs and torso are obvious enough. But epileptic spasms can also take the form of slight head nodding or unusual movements of the eyes.
Combine “rare” and “difficult to detect” and what often happens is that infants with epileptic spasms go undiagnosed for months – with sometimes devastating consequences.
“For babies with untreated epileptic spasms, their developmental milestones either regress or stop altogether,” says Jun Park, MD, a childhood epilepsy specialist at University Hospitals Rainbow Babies & Children’s Hospital. “Having the spasms puts a brake on their cognitive development. That’s why we want to expedite the diagnosis and treatment.”
To accomplish just that, Dr. Park and his colleagues at UH Rainbow have launched a comprehensive epileptic spasms program. Speed, efficiency and support are its watchwords, Dr. Park says.
“Families get automatically connected from day one when the diagnosis is made,” he says. “Everything is set up – MRI, genetics, developmental pediatric evaluations, follow-up appointments -- everything is set up automatically. The parents don’t forget because we do it for them. Also when possible, we try to combine multiple appointments on the same day.”
When a pediatrician or child neurologist suspects a case of epileptic spasms, the child is immediately admitted to UH Rainbow for a detailed history, physical exam and video EEG monitoring.
When Dr. Park or one of his epilepsy colleagues identify epileptic spasms, treatment options are discussed with the family. At UH Rainbow, first-line treatment for an infant with epileptic spasms is typically the medication vigabatrin. The team also makes arrangements for a high-resolution brain MRI with center-specific “epilepsy protocol” that increases the chance of identifying even a small abnormality in the brain. In parallel, a geneticist is consulted to help identify any possible genetic cause of spasms.
Treatment with vigabatrin begins in the hospital, thanks to the in-patient vigabatrin stocking program at UH Rainbow – a practice that’s somewhat unusual among children’s hospitals, Dr. Park says. The family is provided with education materials about epileptic spams and trained in how to administer the powdered medicine. At the time of hospital discharge, the family is provided with follow-up appointments.
“We’d know if the vigabatrin works in about two weeks,” Dr. Park says. “We also do follow-up video EEGs. Parents may report no spasms on the outside, but the EEG may show that the patient is still having subtle spasms. Also, once the spasms stop on the medicine, these patients may develop other seizure types, so follow-up continues to be very important.”
“While various medications are used to treat epileptic spasms, in addition to ketogenic diet if needed, we continuously monitor the patient so that we can identify if and when epilepsy surgery may be an option,” Dr. Park adds. “Our pediatric epilepsy surgery program is an integral part of the epileptic spasms program, which makes the latter really comprehensive.”
Another integral part of the comprehensive epileptic spasms program is the availability of two dedicated pediatric epilepsy nurses who can answer questions and address the needs of the patients after the diagnosis of epileptic spasms is made. In addition, a dedicated pediatric advance nurse practitioner in the pediatric epilepsy monitoring unit helps educate parents and caretakers about the new diagnosis and coordination of care.
“These families are the ones who need the most communication,” Dr. Park says. “We can answer questions and adjust medications over the phone in between follow-up appointments, if needed. It’s personalized care.”
Dr. Park says he hopes the comprehensiveness and convenience of the new program will result in expedited diagnosis and better outcomes for families.
“It’s so important to stop epileptic spasms as soon as possible,” he says. “Imagine an infant losing six months of time at such a critical stage of development. The time from diagnosis and treatment should not be delayed.”
For more information about the comprehensive epileptic spasms program at UH Rainbow or to refer a patient, please email Peds.Innovations@UHhospitals.org.